Muscular

Dystrophy
By: Mia Gradelski
 History of the Disease
● Duchenne Muscular Dystrophy was first described by the
French neurologist Guillaume Benjamin Amand Duchenne in
the 1860s
● In the 1980's it was identified as a lack of the dystrophin
protein in muscle cells causes them to be fragile and easily
damaged.
● Study: In the 1860s he described severe progressive muscle
weakness in 13 young boys
Symptoms of the Disease
● About half of people with muscular dystrophy have this variety. Although girls
can be carriers and mildly affected, the disease typically affects boys.
● About one-third of boys with Duchenne Muscular Dystrophy don't have a family
history of the disease (spontaneous mutation).

Signs and symptoms typically appear between the ages of 2 and 3, and may include:

● Frequent falls
● Difficulty getting up from a lying or sitting position
● Trouble running and jumping
● Waddling gait
● Walking on the toes
● Large calf muscles
● Muscle pain and stiffness
 Cause of the Disease
● Certain genes are involved in making proteins that protect muscle fibers from damage.
Muscular dystrophy occurs when one of these genes is defective.
● Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the
disease. Many of these mutations are inherited. But some occur spontaneously in the mother's
egg or the developing embryo and can be passed onto the next generation.

Risk factors

● Muscular dystrophy occurs in both sexes and in all ages and races.
● The most common variety, Duchenne, usually occurs in young boys. People with a family
history of muscular dystrophy are at higher risk of developing the disease or passing it on to
their children.
 Treatments for the Disease
● There's no cure for any form of muscular dystrophy. But treatment can help prevent or
reduce problems in the joints and spine to allow people with muscular dystrophy to
remain mobile as long as possible.

Treatment options include medications, physical therapy, and surgical and other procedures.

● Medications
● Home remedies
● Surgery
● Therapy
Identification of the Disease
Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and
tests. These might include:

● A muscle biopsy (the removal and exam of a small sample of muscle tissue)
● DNA (genetic) testing
● Electromyography or nerve conduction tests (which use electrodes to test muscle
and/or nerve function)
● Blood enzyme tests (to look for the presence of creatine kinase, which reveals
deterioration of muscle fibers)

For Duchenne and Becker Muscular Dystrophies, muscle biopsy may show whether
dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze the
condition of the related gene.
Hardy- Weinberg Data:
Demonstrating gene frequencies from
16 generations
Individual Muscular Dystrophy Spreadsheet:
https://docs.google.com/spreadsheets/d/1WJF2ZI4Q11oyqTaj3WxSm8sOI
WmXd9Aiwjx9w6bnuZ0/edit#gid=0

Lab Group Spreadsheet:

https://docs.google.com/spreadsheets/d/1FolWXfR5EBYDxolZjYC8xnyyY
w7ylVy4NRPTSJiqHN8/edit?ts=5a709400#gid=0
Bioethical Considerations
1. Equity and harm by omission. This raises the real possibility of those children with
rarer exons being denied a potentially life saving treatment.
2. If therapies are developed for the rarer mutations, risk and uncertainty become more
difficult to assess.
3. Justice and minimum entitlement: given that minimum entitlement in this case is likely
to be very expensive (the comparable my ozone therapy costs $300,000 per person,
per year).
 Works Cited
“Muscular Dystrophy Association.” Muscular Dystrophy Association, www.mda.org/.

“Muscular Dystrophy.” Background, Pathophysiology, Etiology, 11 Sept. 2017,

emedicine.medscape.com/article/1259041-overview.

“Muscular Dystrophy.” Centers for Disease Control and Prevention, Centers for Disease Control and

Prevention, 7 Apr. 2016, www.cdc.gov/ncbddd/musculardystrophy/facts.html.

“Muscular Dystrophy.” Genetic and Rare Diseases Information Center, U.S. Department of Health and

Human Services, rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy.

“Muscular Dystrophy.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 27 Nov.

2014, www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-

20375388.

“Muscular Dystrophy: Types, Symptoms, and Diagnosis.” Healthline, Healthline Media,

www.healthline.com/health/muscular-dystrophy.